Differences of Sex Development
Gene: SOX9EnsemblGeneIds (GRCh38): ENSG00000125398
EnsemblGeneIds (GRCh37): ENSG00000125398
OMIM: 608160, Gene2Phenotype
SOX9 is in 10 panels
1 review
Chirag Patel (Genetic Health Queensland)
Spectrum of disorders can include 'acampomelic campomelic dysplasia' and 'campomelic dysplasia with autosomal sex reversal'. Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype.
Some individuals may only present with 46,XX sex reversal or 46,XY sex reversal and no skeletal malformations.
Well established gene-disease association.Created: 6 Dec 2024, 12:15 a.m. | Last Modified: 6 Dec 2024, 12:15 a.m.
Panel Version: 0.348
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Campomelic dysplasia, MIM# 114290; Campomelic dysplasia, MONDO:0007251; Acampomelic campomelic dysplasia, MIM # 114290, 46XX sex reversal 2, MIM# 278850; 46XY sex reversal 10, MIM # 616425
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Campomelic dysplasia, MIM# 114290
- Campomelic dysplasia, MONDO:0007251
- Acampomelic campomelic dysplasia, MIM # 114290, 46XX sex reversal 2, MIM# 278850
- 46XY sex reversal 10, MIM # 616425
- OMIM
- 608160
- Clinvar variants
- Variants in SOX9
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sox9 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SOX9 were changed from to Campomelic dysplasia, MIM# 114290; Campomelic dysplasia, MONDO:0007251; Acampomelic campomelic dysplasia, MIM # 114290, 46XX sex reversal 2, MIM# 278850; 46XY sex reversal 10, MIM # 616425
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SOX9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SOX9 was added gene: SOX9 was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOX9 was set to Unknown